Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal posterior eye segment morphology (HP:0004329)

Parent Node:
Abnormal vitreous humor morphology (HP:0004327)

..Starting node
..Peripheral vitreous opacities (HP:0007710)

Term ID:

7710

Name:

Peripheral vitreous opacities

Synonym:

Definition:

Comments:

Reference:

HP:0007710

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amyloid deposition in the vitreous humor (HP:0007841)

Asteroid hyalosis (HP:0030672)

Beaded vitreous appearance (HP:0031154)

Membranous vitreous appearance (HP:0031153)

Optically empty vitreous (HP:0030663)

Posterior vitreous detachment (HP:0001489)

Remnants of the hyaloid vascular system (HP:0007968)

Vitreoretinopathy (HP:0007773)

Vitreous floaters (HP:0100832)

Vitreous hemorrhage (HP:0007902)

Vitritis (HP:0011531)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007710	HP:0007710	Peripheral vitreous opacities	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0007710	HP:0007710	Peripheral vitreous opacities	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040282 - Frequent	194

Genes (2) :NDP PAX6

Diseases (2) :OMIM:305390 ORPHA:137902

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.